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Journal Abstract Search

193 related items for PubMed ID: 29445841

  • 1. Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex.
    Drakulic S, Rai J, Petersen SV, Golas MM, Sander B.
    Cell Mol Life Sci; 2018 Aug; 75(16):3009-3026. PubMed ID: 29445841
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  • 2. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
    Ducich NH, Mears JA, Bedoyan JK.
    J Inherit Metab Dis; 2022 May; 45(3):557-570. PubMed ID: 35038180
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  • 3. Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
    Pavlu-Pereira H, Lousa D, Tomé CS, Florindo C, Silva MJ, de Almeida IT, Leandro P, Rivera I, Vicente JB.
    Biochimie; 2021 Apr; 183():78-88. PubMed ID: 33588022
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  • 4. Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.
    Gokcan H, Bedoyan JK, Isayev O.
    J Chem Inf Model; 2022 Jul 25; 62(14):3463-3475. PubMed ID: 35797142
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  • 5. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.
    Mol Genet Metab; 2011 Dec 25; 104(4):507-16. PubMed ID: 21914562
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  • 7. Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
    Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I.
    Gene; 2016 Oct 15; 591(2):417-24. PubMed ID: 27343776
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  • 14. Purification of the pyruvate dehydrogenase multienzyme complex of Zymomonas mobilis and identification and sequence analysis of the corresponding genes.
    Neveling U, Klasen R, Bringer-Meyer S, Sahm H.
    J Bacteriol; 1998 Mar 15; 180(6):1540-8. PubMed ID: 9515924
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  • 16. Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts.
    Glushakova LG, Judge S, Cruz A, Pourang D, Mathews CE, Stacpoole PW.
    Mol Genet Metab; 2011 Nov 15; 104(3):255-60. PubMed ID: 21846590
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  • 17. Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase.
    Whitley MJ, Arjunan P, Nemeria NS, Korotchkina LG, Park YH, Patel MS, Jordan F, Furey W.
    J Biol Chem; 2018 Aug 24; 293(34):13204-13213. PubMed ID: 29970614
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  • 19. Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
    Morten KJ, Caky M, Matthews PM.
    Neurology; 1998 Nov 24; 51(5):1324-30. PubMed ID: 9818854
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